Variant report

Variant	rs72955957
Chromosome Location	chr18:9682652-9682653
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9679137..9682962-chr18:9706802..9710430,4	K562	blood:
2	chr18:9680525..9686114-chr18:9707690..9711025,4	MCF-7	breast:
3	chr18:9681462..9684349-chr18:9706806..9709223,3	K562	blood:
4	chr18:9681611..9683915-chr18:9818269..9820001,2	K562	blood:
5	chr18:9613273..9615499-chr18:9682268..9685190,2	MCF-7	breast:
6	chr18:9680241..9682943-chr18:9684125..9686562,3	K562	blood:
7	chr18:9682384..9686964-chr18:9702727..9705542,5	K562	blood:
8	chr18:9573929..9576042-chr18:9682222..9683938,2	K562	blood:
9	chr18:9677449..9679645-chr18:9682253..9684229,2	K562	blood:
10	chr18:9570568..9573033-chr18:9681202..9682731,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000264644	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs34067459	0.91[ASN][1000 genomes]
rs34667583	0.91[ASN][1000 genomes]
rs35364932	0.91[ASN][1000 genomes]
rs35829290	0.91[ASN][1000 genomes]
rs36119293	0.91[ASN][1000 genomes]
rs62078868	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66828413	0.91[ASN][1000 genomes]
rs68060192	0.91[ASN][1000 genomes]
rs72953435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72953449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955953	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955965	0.95[ASN][1000 genomes]
rs72960096	0.95[ASN][1000 genomes]
rs8092322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092353	0.91[ASN][1000 genomes]
rs8092431	0.91[ASN][1000 genomes]
rs8095937	0.91[ASN][1000 genomes]
rs8096050	0.91[ASN][1000 genomes]
rs8098931	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv978600	chr18:9674589-9684440	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9659800-9685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9673800-9685000	Weak transcription	Spleen	Spleen
3	chr18:9682000-9683400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:9682400-9683400	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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